| Primary Identifier | IPR030371 | Type | Family |
| Short Name | ABCA12 |
| description | Members of ABC (ATP-binding cassette) transporter subfamily A are full-length transporters [], which consist of a single long polypeptide chain organised into two tandemly arranged halves. Each half contains a membrane-spanning domain (MSD) followed by a cytoplasmic nucleotide binding domain (NBD) []. ATP-binding cassette subfamily A member 12 (ABCA12) is a keratinocyte transmembrane lipid transporter protein associated with the transport of lipids via lamellar granules. It is linked to three related dyskeratinisation disorders: Harlequin ichthyosis (HI) [], lamellar ichthyosis type 2 [], and non-bullous congenital ichthyosiform erythroderma []. It may play an important role in lipid transport from the Golgi apparatus to lamellar granule in human granular layer keratinocytes []. |
